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Primary cilia

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https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#1
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28346477/disruption-of-sorcs2-reveals-differences-in-the-regulation-of-stereociliary-bundle-formation-between-hair-cell-types-in-the-inner-ear
#2
Andrew Forge, Ruth R Taylor, Sally J Dawson, Michael Lovett, Daniel J Jagger
Behavioural anomalies suggesting an inner ear disorder were observed in a colony of transgenic mice. Affected animals were profoundly deaf. Severe hair bundle defects were identified in all outer and inner hair cells (OHC, IHC) in the cochlea and in hair cells of vestibular macular organs, but hair cells in cristae were essentially unaffected. Evidence suggested the disorder was likely due to gene disruption by a randomly inserted transgene construct. Whole-genome sequencing identified interruption of the SorCS2 (Sortilin-related VPS-10 domain containing protein) locus...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28342295/intraflagellar-transport-mechanisms-of-motor-action-cooperation-and-cargo-delivery
#3
REVIEW
Bram Prevo, Jonathan M Scholey, Erwin J G Peterman
Intraflagellar transport (IFT) is a form of motor-dependent cargo transport that is essential for the assembly, maintenance and length-control of cilia, which play critical roles in motility, sensory reception and signal transduction in virtually all eukaryotic cells. During IFT, anterograde kinesin-2 and retrograde IFT-dynein motors drive the bidirectional transport of IFT trains that deliver cargo, for example axoneme precursors such as tubulins as well as molecules of the signal transduction machinery, to their site of assembly within the cilium...
March 25, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28332491/corrigendum-endocytic-recycling-protein-ehd1-regulates-primary-cilia-morphogenesis-and-shh-signaling-during-neural-tube-development
#4
Sohinee Bhattacharyya, Mark A Rainey, Priyanka Arya, Bhopal C Mohapatra, Insha Mushtaq, Samikshan Dutta, Manju George, Matthew D Storck, Rodney D McComb, David Muirhead, Gordon L Todd, Karen Gould, Kaustubh Datta, Janee Gelineau-van Waes, Vimla Band, Hamid Band
No abstract text is available yet for this article.
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332184/primary-cilium-alterations-and-expression-changes-of-patched1-proteins-in-niemann-pick-type-c-disease
#5
Patrizia Formichi, Carla Battisti, Maria Margherita De Santi, Raffaella Guazzo, Sergio Antonio Tripodi, Elena Radi, Benedetta Rossi, Ermelinda Tarquini, Antonio Federico
Niemann-Pick type C disease (NPC) is a disorder characterized by abnormal intracellular accumulation of unesterified cholesterol and glycolipids. Two distinct disease-causing genes have been isolated, NPC1 and NPC2. The NPC1 protein is involved in the sorting and recycling of cholesterol and glycosphingolipids in the late endosomal/lysosomal system. It has extensive homology with the Patched 1 (Ptc1) receptor, a transmembrane protein localized in the primary cilium and involved in the Hedgehog signaling (Shh) pathway...
March 23, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28320755/ciliary-mechanisms-of-cyst-formation-in-polycystic-kidney-disease
#6
Ming Ma, Anna-Rachel Gallagher, Stefan Somlo
Autosomal-dominant polycystic kidney disease (ADPKD) is a disease of defective tissue homeostasis resulting in active remodeling of nephrons and bile ducts to form fluid-filled sacs called cysts. The causal genes PKD1 and PKD2 encode transmembrane proteins polycystin 1 (PC1) and polycystin 2 (PC2), respectively. Together, the polycystins localize to the solitary primary cilium that protrudes from the apical surface of most kidney tubule cells and is thought to function as a privileged compartment that the cell uses for signal integration of sensory inputs...
March 20, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28317394/an-update-on-the-pathophysiology-and-management-of-polycystic-liver-disease
#7
May Yw Wong, Geoffrey W McCaughan, Simone I Strasser
Polycystic liver disease (PLD) is characterized by the presence of multiple cholangiocyte-derived hepatic cysts that progressively replace liver tissue. They are classified as an inherited ciliopathy /cholangiopathy as pathology exists at the level of the primary cilia of cholangiocytes. Aberrant expression of the proteins in primary cilia can impair their structures and functions, thereby promoting cystogenesis. Areas covered: This review begins by looking at the epidemiology of PLD and its natural history...
March 18, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28293419/cilia-before-and-after
#8
REVIEW
Peter Satir
This is a history of cilia research before and after the discovery of intraflagellar transport (IFT) and the link between primary cilia ciliogenesis and polycystic kidney disease (PKD). Before IFT, ca. the beginning of the new millennium, although sensory and primary cilia were well described, research was largely focused on motile cilia, their structure, movement, and biogenesis. After IFT and the link to PKD, although work on motile cilia has continued to progress, research on primary cilia has exploded, leading to new insights into the role of cilia in cell signaling and development...
2017: Cilia
https://www.readbyqxmd.com/read/28291836/unique-spatiotemporal-requirements-for-intraflagellar-transport-genes-during-forebrain-development
#9
John Snedeker, Elizabeth N Schock, Jamie N Struve, Ching-Fang Chang, Megan Cionni, Pamela V Tran, Samantha A Brugmann, Rolf W Stottmann
Primary cilia are organelles extended from virtually all cells and are required for the proper regulation of a number of canonical developmental pathways. The role in cortical development of proteins important for ciliary form and function is a relatively understudied area. Here we have taken a genetic approach to define the role in forebrain development of three intraflagellar transport proteins known to be important for primary cilia function. We have genetically ablated Kif3a, Ift88, and Ttc21b in a series of specific spatiotemporal domains...
2017: PloS One
https://www.readbyqxmd.com/read/28291807/the-meckel-syndrome-associated-protein-mks1-functionally-interacts-with-components-of-the-bbsome-and-ift-complexes-to-mediate-ciliary-trafficking-and-hedgehog-signaling
#10
Sarah C Goetz, Fiona Bangs, Chloe L Barrington, Nicholas Katsanis, Kathryn V Anderson
The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins...
2017: PloS One
https://www.readbyqxmd.com/read/28290481/identification-of-elongated-primary-cilia-with-impaired-mechanotransduction-in-idiopathic-scoliosis-patients
#11
Niaz Oliazadeh, Kristen F Gorman, Robert Eveleigh, Guillaume Bourque, Alain Moreau
The primary cilium is an outward projecting antenna-like organelle with an important role in bone mechanotransduction. The capacity to sense mechanical stimuli can affect important cellular and molecular aspects of bone tissue. Idiopathic scoliosis (IS) is a complex pediatric disease of unknown cause, defined by abnormal spinal curvatures. We demonstrate significant elongation of primary cilia in IS patient bone cells. In response to mechanical stimulation, these IS cells differentially express osteogenic factors, mechanosensitive genes, and signaling genes...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28290230/cilia-and-ear
#12
Gioia Piatti, Maria Margherita De Santi, Sara Torretta, Lorenzo Pignataro, Daniela Soi, Umberto Ambrosetti
OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. METHODS: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation...
April 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28289722/assessment-of-ciliary-phenotype-in-primary-ciliary-dyskinesia-by-micro-optical-coherence-tomography
#13
George M Solomon, Richard Francis, Kengyeh K Chu, Susan E Birket, George Gabriel, John E Trombley, Kristi L Lemke, Nikolai Klena, Brett Turner, Guillermo J Tearney, Cecilia W Lo, Steven M Rowe
Ciliary motion defects cause defective mucociliary transport (MCT) in primary ciliary dyskinesia (PCD). Current diagnostic tests do not assess how MCT is affected by perturbation of ciliary motion. In this study, we sought to use micro-optical coherence tomography (μOCT) to delineate the mechanistic basis of cilia motion defects of PCD genes by functional categorization of cilia motion. Tracheae from three PCD mouse models were analyzed using μOCT to characterize ciliary motion and measure MCT. We developed multiple measures of ciliary activity, integrated these measures, and quantified dyskinesia by the angular range of the cilia effective stroke (ARC)...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28286175/cilia-dependent-gli-processing-in-neural-crest-cells-is-required-for-tongue-development
#14
Grethel Millington, Kelsey Elliott, Ya-Ting Chang, Ching-Fang Chang, Andrzej Dlugosz, Samantha A Brugmann
Ciliopathies are a class of diseases caused by the loss of a ubiquitous, microtubule-based organelle called a primary cilium. Ciliopathies commonly result in defective development of the craniofacial complex, causing midfacial defects, craniosynostosis, micrognathia and aglossia. Herein, we explored how the conditional loss of primary cilia on neural crest cells (Kif3a(f/f);Wnt1-Cre) generated aglossia. On a cellular level, our data revealed that aglossia in Kif3a(f/f);Wnt1-Cre embryos was due to a loss of mesoderm-derived muscle precursors migrating into and surviving in the tongue anlage...
March 9, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28283191/ccdc181-is-a-microtubule-binding-protein-that-interacts-with-hook1-in-haploid-male-germ-cells-and-localizes-to-the-sperm-tail-and-motile-cilia
#15
Thomas Schwarz, Barbara Prieler, Johannes A Schmid, Pawel Grzmil, Juergen Neesen
Disruption of murine Hook1 results in a disturbed spermatogenesis and consequently leads to male infertility in mice. Within these mice abnormal sperm development starts with a disorganization of the microtubular manchette in elongating spermatids that leads to an abnormal head shape as well as to distinctive structural changes in the flagella of the sperm. To elucidate Hook1 function in male germ cell differentiation a yeast two-hybrid screen was performed using a murine testicular library, which leads to the identification of several putative Hook1 interacting proteins...
February 20, 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/28271209/tgf-%C3%AE-1-impairs-mechanosensation-of-human-osteoblasts-via-hdac6-mediated-shortening-and-distortion-of-primary-cilia
#16
Sabrina Ehnert, Vrinda Sreekumar, Romina H Aspera-Werz, Sahar O Sajadian, Elke Wintermeyer, Gunther H Sandmann, Christian Bahrs, Jan G Hengstler, Patricio Godoy, Andreas K Nussler
Transforming growth factor β (TGF-β) is a critical regulator of bone density owing to its multiple effects on cell growth and differentiation. Recently, we have shown that TGF-β1 effectively blocks bone morphogenetic protein (BMP) induced maturation of osteoblasts by upregulating histone deacetylase (HDAC) activity. The current study aimed at investigating the effect of rhTGF-β1 treatment on the expression of specific HDACs and their cellular effects, e.g., microtubule structures (primary cilia) and mechanosensation...
March 7, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28266690/lengthening-primary-cilia-enhances-cellular-mechanosensitivity
#17
G-I Im
Stem cell research arose from the need to explore new therapeutic possibilities for intractable and lethal diseases. Although musculoskeletal disorders are basically nonlethal, their high prevalence and relative ease of performing clinical trials have facilitated the clinical application of stem cells in this field. However, few reliable clinical studies have been published, despite the plethora of in vitro and preclinical studies in stem cell research for regenerative medicine in the musculoskeletal system...
February 21, 2017: European Cells & Materials
https://www.readbyqxmd.com/read/28257607/dync2h1-mutation-causes-jeune-syndrome-and-recurrent-lung-infections-associated-with-ciliopathy
#18
Nagehan Emiralioglu, Julia Wallmeier, Heike Olbrich, Heymut Omran, Ugur Ozcelik
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6-month-old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy...
March 3, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28254108/metaplastic-phenotype-in-human-primary-bronchiolar-epithelial-cells-after-repeated-exposure-to-native-mainstream-smoke-at-the-air-liquid-interface
#19
Michaela Aufderheide, Shigeaki Ito, Shinkichi Ishikawa, Makito Emura
3D constructs composed of primary normal differentiated human bronchiolar epithelial (NHBE) cells as mono- or co-culture in combination with normal human lung fibroblasts were exposed repeatedly at the air-liquid interface with non-lethal concentrations of mainstream cigarette smoke (4 cigarettes a day, 5days/week, 13 times repetition in total) to build up a permanent burden on the cells. Samples were taken after 4, 8 and 13 times of repeated smoke exposure and the cultures were analyzed by histopathological methods In comparison with the clean air exposure (process control) and incubator control cells the cigarette smoke exposed cultures showed a reduction of cilia bearing as well as mucus producing cells...
February 18, 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/28244951/the-role-of-nr2b-creb-mir212-132-crtc1-creb-signal-network-in-pain-regulation-in-vitro-and-in-vivo
#20
Tianjiao Xia, Shuaishuai Chu, Yin Cui, Fangxia Xu, Yue Liu, Jia Song, Yue Qian, Xueming Shao, Xiuxiu Li, Xiaoping Gu, Zhengliang Ma
BACKGROUND: Chronic pain is a debilitating threat to human health, and its molecular mechanism remains undefined. Previous studies have illustrated a key role of cAMP response element-binding protein (CREB) in pain regulation; CREB-regulated transcription coactivator 1 (CRTC1) and microRNA212/132 (miR212/132) are also vital in synaptic plasticity. However, little is known about the interaction among these factors in pain condition. We conducted this experiment mainly to determine the crosstalk between CREB, CRTC1, and miR212/132 in vitro...
February 24, 2017: Anesthesia and Analgesia
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